22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
March 2024 in “Skin research and technology” This study found that CRP levels were elevated in alopecia areata patients, with an inverse linear association between serum vitamin D and CRP levels specifically noted in ophiasis AA.
February 2026 in “The Laryngoscope” This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.